Linked Data
dbSNP Id:
rs745515394
ExAC:
18:22056900 T / A
gnomAD v2:
18-22056900-T-A
gnomAD v4:
18-24476936-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24476936T>A , CM000680.2:g.24476936T>A | GRCh38 |
| NC_000018.9:g.22056900T>A , CM000680.1:g.22056900T>A | GRCh37 |
| NC_000018.8:g.20310898T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.547T>A MANE Select | ENSP00000256906.4:p.Phe183Ile | |
| ENST00000256906.4:c.547T>A | ENSP00000256906.4:p.Phe183Ile | |
| ENST00000426880.2:c.283T>A | ENSP00000402526.2:p.Phe95Ile | |
| NM_001143828.1:c.283T>A | NP_001137300.1:p.Phe95Ile | |
| NM_001160166.1:c.*179T>A | NP_001153638.1:n.*179T>A | |
| NM_021624.3:c.547T>A | NP_067637.2:p.Phe183Ile | |
| XM_011526133.1:c.357+7985T>A | XP_011524435.1:n.357+7985T>A | |
| NM_021624.4:c.547T>A MANE Select | NP_067637.2:p.Phe183Ile | |
| NM_001143828.2:c.283T>A | NP_001137300.1:p.Phe95Ile | |
| NM_001160166.2:c.*179T>A | NP_001153638.1:n.*179T>A |